内皮素1基因多态性与原发性高血压的病例对照研究  

Case-control Study of the Genetic Polymorphism of Endothelin-1 Gene and Essentia1 Hypertension

作　　者：王珍[1] 周建中[1] 杭丽玮[1] 窦贵旺[2] 蔡家春[2] 钟望涛[3] 吴志红[2] 

机构地区：[1]重庆医科大学附属第一医院心内科,重庆400016 [2]重庆医科大学公共卫生学院流行病学教研室,重庆400016 [3]广东医学院附属医院神经内科,广东湛江524001

出　　处：《西南大学学报（自然科学版）》2010年第2期62-67,共6页Journal of Southwest University(Natural Science Edition)

基　　金：重庆市科委自然科学基金资助项目(CSTC;2006BB5044);重庆医科大学校办课题资助项目(QD200535)

摘　　要：为探讨重庆市某社区人群内皮素1(Endothelin-1,ET-1)基因G8002A,+138A/-两个位点基因多态性与原发性高血压(Essential hypertension,EH)的相关性,采用PCR-RFLP和PCR-SSP方法分别检测95名EH患者及150名血压正常者组(NT)的G8002A和+138A/-基因多态性.结果发现:在EH组中发现+138A/-位点基因型与舒张压相关(p=0.005),其中4A4A型舒张压比3A3A型高13 mmHg(p=0.005),比3A4A型高12 mmHg(p=0.04).将G8002A与+138A/-位点联合分析后发现舒张压在EH病人中GA4A4A型较其他几型平均高达近20 mmHg,呈显著相关性(p<0.01).认为ET-1基因+138A/-的A插入型变异位点可能与重庆市EH人群的舒张压水平有关,GA4A4A基因型人群可能是EH患者血压升高的一个高危遗传因素.Objective：To investigate the association of the polymorphism of G8002A and ＋138A/-of the Endothelin-1 gene with essential hypertension（EH） in a sub-population of Chongqing.Methods： A case-control study was conducted using PCR-RFLP and PCR-SSP techniques to explore the ET-1 gene G8002A and ＋138A/-polymorphism in 95 essential hypertensives（EH group） and 150 normotensives（NT group） of Chongqing.Result： In the EH group,＋138A/-gene variants influenced diastolic blood pressure（DBP）（p=0.005）,and DBP in individuals with 4A4A carriers of ＋138A/-was 13 mm Hg higher than that in 3A3A carriers（p=0.005） and 12 mm Hg higher than that in 3A4A carriers（p=0.04）.An analysis of combined genotypes of G8002A and ＋138A/-showed that the combined genotypes of GA4A4A had about 20 mm Hg higher DBP than other combined genotypes in the EH group（p0.01） Conclusion： ＋138A/-polymorphism may be involved in the increasing DBP level in EH in Chongqing population and the GA4A4A genotype might be a genetic risk factor for blood pressure raising in hypertensives.

关 键 词：原发性高血压 内皮素-1基因 基因多态性 

分 类 号：Q599[生物学—生物化学] R181.33[医药卫生—流行病学]